Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00662:Rad1'

45910

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rad1

Ensembl Gene

ENSMUSG00000022248

Gene Name

RAD1 checkpoint DNA exonuclease

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

IGL00662

Quality Score

Status

Chromosome

Chromosomal Location

10486104-10499149 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10490495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 154 (N154S)

Ref Sequence

ENSEMBL: ENSMUSP00000098338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022855] [ENSMUST00000022856] [ENSMUST00000100775] [ENSMUST00000168408] [ENSMUST00000168761] [ENSMUST00000169050] [ENSMUST00000169519] [ENSMUST00000170100]

AlphaFold

Q9QWZ1

Predicted Effect

probably benign
Transcript: ENSMUST00000022855

SMART Domains

Protein: ENSMUSP00000022855
Gene: ENSMUSG00000022247

Domain	Start	End	E-Value	Type
Brix	63	243	3.62e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000022856
AA Change: N154S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022856
Gene: ENSMUSG00000022248
AA Change: N154S

Domain	Start	End	E-Value	Type
Pfam:Rad1	16	257	2.2e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100775
AA Change: N154S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000098338
Gene: ENSMUSG00000022248
AA Change: N154S

Domain	Start	End	E-Value	Type
Pfam:Rad1	16	235	5.5e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168408

SMART Domains

Protein: ENSMUSP00000132747
Gene: ENSMUSG00000022248

Domain	Start	End	E-Value	Type
Pfam:Rad1	16	67	1.7e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168761

SMART Domains

Protein: ENSMUSP00000130602
Gene: ENSMUSG00000022247

Domain	Start	End	E-Value	Type
Blast:Brix	10	51	5e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000169050

SMART Domains

Protein: ENSMUSP00000127437
Gene: ENSMUSG00000022247

Domain	Start	End	E-Value	Type
Pfam:Brix	72	154	8.8e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169519

SMART Domains

Protein: ENSMUSP00000126645
Gene: ENSMUSG00000022248

Domain	Start	End	E-Value	Type
Pfam:Rad1	16	133	9e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170100
AA Change: N124S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000128601
Gene: ENSMUSG00000022248
AA Change: N124S

Domain	Start	End	E-Value	Type
Pfam:Rad1	1	161	1.3e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170531

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit normal B cell DNA damage sensitivity, somatic hypermutation, and class switch recombination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg16l2	T	C	7: 100,939,103 (GRCm39)	N587S	probably benign	Het
Bcar3	C	T	3: 122,306,585 (GRCm39)	A186V	probably benign	Het
Bcr	A	T	10: 75,003,932 (GRCm39)		probably benign	Het
Cd207	A	G	6: 83,652,908 (GRCm39)	I74T	possibly damaging	Het
Cenpn	T	C	8: 117,655,326 (GRCm39)		probably null	Het
Chuk	A	T	19: 44,085,649 (GRCm39)	F228I	possibly damaging	Het
Cmss1	T	C	16: 57,124,092 (GRCm39)	D233G	probably damaging	Het
Copg1	C	T	6: 87,879,352 (GRCm39)	T466I	possibly damaging	Het
Ctsll3	A	G	13: 60,946,756 (GRCm39)	S288P	probably benign	Het
Fat3	T	A	9: 15,907,723 (GRCm39)	I2760F	possibly damaging	Het
Gpi1	A	G	7: 33,915,375 (GRCm39)		probably benign	Het
Il18rap	C	T	1: 40,581,081 (GRCm39)	R318C	probably benign	Het
Kcnk9	A	G	15: 72,417,924 (GRCm39)	S69P	probably benign	Het
Kctd18	T	C	1: 57,995,897 (GRCm39)	T127A	probably damaging	Het
Khk	T	C	5: 31,087,019 (GRCm39)		probably benign	Het
Ncapg	T	A	5: 45,850,502 (GRCm39)	S703T	possibly damaging	Het
Nup98	T	A	7: 101,844,194 (GRCm39)	N47I	probably damaging	Het
Rigi	A	G	4: 40,220,389 (GRCm39)		probably benign	Het
Slc35f5	T	A	1: 125,515,161 (GRCm39)	L438H	probably damaging	Het
Slc7a2	A	G	8: 41,358,659 (GRCm39)	Y334C	possibly damaging	Het
Spata17	T	C	1: 186,849,536 (GRCm39)	N124S	probably benign	Het
Tfap2c	T	C	2: 172,393,438 (GRCm39)	Y118H	probably damaging	Het
Tnpo3	A	T	6: 29,565,845 (GRCm39)	L503*	probably null	Het
Utrn	C	T	10: 12,540,705 (GRCm39)	E1907K	probably damaging	Het
Vav3	T	A	3: 109,435,708 (GRCm39)		probably benign	Het
Vps13a	T	A	19: 16,681,904 (GRCm39)	K1033I	probably damaging	Het
Zfp202	A	G	9: 40,122,339 (GRCm39)	N367S	probably benign	Het

Other mutations in Rad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01536:Rad1	APN	15	10,493,286 (GRCm39)	missense	possibly damaging	0.94
IGL01544:Rad1	APN	15	10,490,465 (GRCm39)	missense	probably damaging	0.99
IGL02058:Rad1	APN	15	10,493,361 (GRCm39)	missense	probably benign	0.01
IGL02368:Rad1	APN	15	10,493,337 (GRCm39)	missense	probably benign	0.19
IGL02793:Rad1	APN	15	10,493,365 (GRCm39)	missense	probably benign	0.00
IGL02875:Rad1	APN	15	10,493,365 (GRCm39)	missense	probably benign	0.00
R0271:Rad1	UTSW	15	10,490,543 (GRCm39)	splice site	probably null
R1874:Rad1	UTSW	15	10,488,092 (GRCm39)	missense	probably damaging	1.00
R2154:Rad1	UTSW	15	10,486,721 (GRCm39)	missense	possibly damaging	0.77
R2318:Rad1	UTSW	15	10,490,495 (GRCm39)	missense	probably benign	0.06
R2369:Rad1	UTSW	15	10,486,745 (GRCm39)	missense	probably damaging	1.00
R2875:Rad1	UTSW	15	10,490,417 (GRCm39)	missense	probably benign	0.09
R2876:Rad1	UTSW	15	10,490,417 (GRCm39)	missense	probably benign	0.09
R2915:Rad1	UTSW	15	10,486,728 (GRCm39)	missense	probably damaging	0.99
R3721:Rad1	UTSW	15	10,488,112 (GRCm39)	missense	probably benign	0.00
R4754:Rad1	UTSW	15	10,493,212 (GRCm39)	intron	probably benign
R4931:Rad1	UTSW	15	10,492,848 (GRCm39)	intron	probably benign
R5274:Rad1	UTSW	15	10,488,059 (GRCm39)	splice site	probably null
R5640:Rad1	UTSW	15	10,496,009 (GRCm39)	missense	possibly damaging	0.47
R5885:Rad1	UTSW	15	10,488,143 (GRCm39)	missense	probably damaging	1.00
R6056:Rad1	UTSW	15	10,488,160 (GRCm39)	missense	probably damaging	0.99
R6341:Rad1	UTSW	15	10,492,907 (GRCm39)	missense	probably damaging	0.99
R6420:Rad1	UTSW	15	10,488,098 (GRCm39)	missense	probably benign	0.00
R7068:Rad1	UTSW	15	10,490,379 (GRCm39)	nonsense	probably null
R7205:Rad1	UTSW	15	10,493,343 (GRCm39)	missense	probably benign	0.00
R7312:Rad1	UTSW	15	10,493,367 (GRCm39)	missense	probably benign	0.00
R7817:Rad1	UTSW	15	10,493,404 (GRCm39)	missense	probably benign

Posted On

2013-06-11